Linked Data
dbSNP Id:
rs1237843498
gnomAD v2:
4-69535986-A-G
gnomAD v3:
4-68670268-A-G
gnomAD v4:
4-68670268-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670268A>G , CM000666.2:g.68670268A>G | GRCh38 |
| NC_000004.11:g.69535986A>G , CM000666.1:g.69535986A>G | GRCh37 |
| NC_000004.10:g.69218581A>G | NCBI36 |
| NG_052676.1:g.5509T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338206.6:c.351T>C MANE Select | ENSP00000341045.5:p.Cys117= | |
| ENST00000338206.5:c.351T>C | ENSP00000341045.5:p.Cys117= | |
| ENST00000616841.4:c.351T>C | ENSP00000482004.1:p.Cys117= | |
| NM_001076.3:c.351T>C | NP_001067.2:p.Cys117= | |
| NM_001076.4:c.351T>C MANE Select | NP_001067.2:p.Cys117= |